Research Output per year
Fingerprint Dive into the research topics where Kenjiro Kosaki is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 7 Similar Profiles
Mutation
Medicine & Life Sciences
Phenotype
Medicine & Life Sciences
Genes
Medicine & Life Sciences
CHARGE Syndrome
Medicine & Life Sciences
Intellectual Disability
Medicine & Life Sciences
Missense Mutation
Medicine & Life Sciences
Exome
Medicine & Life Sciences
Exons
Medicine & Life Sciences
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output 1991 2019
A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2
Saeki, S., Enokizono, T., Imagawa, K., Fukushima, H., Kajikawa, D., Sakai, A., Tanaka, M., Ohto, T., Suzuki, H., Uehara, T., Takenouchi, T., Kenjiro, K. & Takada, H., 2019 Jan 1, (Accepted/In press) In : Clinical Case Reports.Research output: Contribution to journal › Article
Open Access
Cleft Lip
Cleft Palate
Exons
Mutation
Autistic Disorder
Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1
Hozumi, K., Fukuoka, H., Odake, Y., Takeuchi, T., Uehara, T., Sato, T., Inoshita, N., Yoshida, K., Matsumoto, R., Bando, H., Hirota, Y., Iguchi, G., Taniguchi, M., Otsuki, N., Nishigori, C., Kosaki, K., Hasegawa, T., Ogawa, W. & Takahashi, Y., 2019 Jan 1, In : Endocrine journal. 66, 10, p. 853-857 5 p.Research output: Contribution to journal › Article
Open Access
Growth Hormone-Secreting Pituitary Adenoma
Neurofibromatosis 1
Acromegaly
Neurofibromatosis 1 Genes
Follicular Adenocarcinoma
A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
Ueno, Y., Enokizono, T., Fukushima, H., Ohto, T., Imagawa, K., Tanaka, M., Sakai, A., Suzuki, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2019 Dec 1, In : Human Genome Variation. 6, 1, 25.Research output: Contribution to journal › Article
Open Access
Megalencephaly
Phosphoric Monoester Hydrolases
Multiple Hamartoma Syndrome
Mutation
Tumors
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate (Journal of Human Genetics, (2017), 62, 9, (861-863), 10.1038/jhg.2017.53)
Kato, K., Miya, F., Hori, I., Ieda, D., Ohashi, K., Negishi, Y., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & Saitoh, S., 2019 Jan 1, In : Journal of Human Genetics.Research output: Contribution to journal › Comment/debate
Open Access
Periventricular Nodular Heterotopia
Medical Genetics
Cleft Palate
Missense Mutation
Mutation
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes
Kubo, A., Sasaki, T., Suzuki, H., Shiohama, A., Aoki, S., Sato, S., Fujita, H., Ono, N., Umegaki-Arao, N., Kawai, T., Nakabayashi, K., Hata, K., Yamada, D., Matsubara, Y., Kosaki, K. & Amagai, M., 2019 Dec, In : Journal of Investigative Dermatology. 139, 12, p. 2458-2466.e9Research output: Contribution to journal › Article
Open Access
Porokeratosis
Heterozygote
Genetic Recombination
Skin
Genes